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Porphyria Centre Sweden C2-71 Department Of Medical Laboratory Sciences And Technology Division Of C | 論文
- Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
- Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria
- A recurrent mutation in variegate porphyria patients from Chile and Sweden : Evidence for a common genetic back-ground?